Mutagenetix > Incidental Mutation

Incidental Mutation 'R5276:Rbfox3'

499965

Institutional Source

Beutler Lab

Gene Symbol

Rbfox3

Ensembl Gene

ENSMUSG00000025576

Gene Name

RNA binding protein, fox-1 homolog (C. elegans) 3

Synonyms

NeuN, D11Bwg0517e, Hrnbp3, Neuna60

MMRRC Submission

042863-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R5276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118380588-118802423 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118387178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 312 (Y312C)

Ref Sequence

ENSEMBL: ENSMUSP00000113636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017576] [ENSMUST00000069343] [ENSMUST00000103023] [ENSMUST00000106278] [ENSMUST00000117731] [ENSMUST00000120061] [ENSMUST00000154746]

AlphaFold

Q8BIF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000017576
AA Change: Y312C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576
AA Change: Y312C

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	208	269	1e-22	PFAM
Pfam:Fox-1_C	279	345	3.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000069343
AA Change: Y281C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576
AA Change: Y281C

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	165	8.3e-2	SMART
Pfam:Fox-1_C	176	229	4.1e-15	PFAM
Pfam:Fox-1_C	226	314	4.8e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103023
AA Change: Y265C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099312
Gene: ENSMUSG00000025576
AA Change: Y265C

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	207	298	4.2e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106278
AA Change: Y265C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101885
Gene: ENSMUSG00000025576
AA Change: Y265C

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	207	298	4.2e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117731
AA Change: Y312C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576
AA Change: Y312C

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	207	260	3.5e-15	PFAM
Pfam:Fox-1_C	257	345	4.3e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120061
AA Change: Y265C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113987
Gene: ENSMUSG00000025576
AA Change: Y265C

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	24	29	N/A	INTRINSIC
RRM	100	171	1.01e-24	SMART
Pfam:Fox-1_C	207	298	6.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154746

SMART Domains

Protein: ENSMUSP00000118332
Gene: ENSMUSG00000025576

Domain	Start	End	E-Value	Type
RRM	1	54	8.6e-5	SMART
Pfam:Fox-1_C	90	142	5.5e-16	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,023,457 (GRCm39)	F11S	probably benign	Het
Adipor2	T	A	6: 119,334,182 (GRCm39)	I343F	probably damaging	Het
Ahdc1	C	T	4: 132,790,109 (GRCm39)	P450L	possibly damaging	Het
Akna	A	C	4: 63,286,440 (GRCm39)	V1353G	possibly damaging	Het
Baz2b	G	A	2: 59,792,958 (GRCm39)	T390I	probably benign	Het
Btbd7	T	C	12: 102,804,651 (GRCm39)	K130E	probably benign	Het
Cdc42bpa	A	G	1: 179,965,415 (GRCm39)	Y1101C	probably damaging	Het
Crlf2	T	G	5: 109,705,501 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,347,186 (GRCm39)	R281S	probably damaging	Het
Dgcr8	T	G	16: 18,101,635 (GRCm39)	T216P	probably benign	Het
Dsg4	A	T	18: 20,579,896 (GRCm39)	I34F	probably benign	Het
Enpp3	A	G	10: 24,685,814 (GRCm39)	S194P	probably damaging	Het
Entpd8	C	T	2: 24,975,057 (GRCm39)	R463W	probably benign	Het
Fam169a	A	G	13: 97,255,004 (GRCm39)	T407A	probably benign	Het
Fam98b	G	T	2: 117,089,779 (GRCm39)	V99F	possibly damaging	Het
Foxn3	T	A	12: 99,162,687 (GRCm39)	K405*	probably null	Het
Gsdmc	T	C	15: 63,673,806 (GRCm39)	T160A	probably benign	Het
Hdac1	T	C	4: 129,422,716 (GRCm39)		probably null	Het
Igfbp1	A	C	11: 7,151,892 (GRCm39)	T232P	probably damaging	Het
Lcor	T	A	19: 41,573,478 (GRCm39)	H744Q	probably damaging	Het
Mertk	G	C	2: 128,643,234 (GRCm39)	G878R	possibly damaging	Het
Metap2	G	T	10: 93,704,784 (GRCm39)	P281H	possibly damaging	Het
Metap2	T	A	10: 93,704,794 (GRCm39)	T278S	probably benign	Het
Mfn1	T	C	3: 32,618,354 (GRCm39)	V169A	probably benign	Het
Mms22l	A	G	4: 24,578,774 (GRCm39)	D751G	probably damaging	Het
Mpl	A	G	4: 118,312,918 (GRCm39)	V138A	probably benign	Het
Myef2	T	A	2: 124,937,641 (GRCm39)	K533N	probably damaging	Het
Mylk3	C	T	8: 86,082,071 (GRCm39)	G309E	probably damaging	Het
Nid1	T	C	13: 13,643,157 (GRCm39)	V365A	probably damaging	Het
Or4d2	A	T	11: 87,784,018 (GRCm39)	I244N	probably damaging	Het
Or5p57	A	T	7: 107,665,423 (GRCm39)	L164*	probably null	Het
Or7d10	C	A	9: 19,831,917 (GRCm39)	N137K	possibly damaging	Het
Or8g19	T	C	9: 39,055,611 (GRCm39)	C72R	probably damaging	Het
Pbrm1	A	G	14: 30,828,141 (GRCm39)	K1323E	probably damaging	Het
Pcdhga12	G	A	18: 37,899,728 (GRCm39)	D187N	possibly damaging	Het
Phrf1	T	C	7: 140,839,196 (GRCm39)		probably benign	Het
Phtf2	A	G	5: 20,977,195 (GRCm39)	V608A	probably benign	Het
Plec	G	A	15: 76,057,638 (GRCm39)	R4122W	probably damaging	Het
Polm	A	G	11: 5,779,393 (GRCm39)	S441P	probably benign	Het
Prrc2b	T	A	2: 32,104,734 (GRCm39)	V1404E	probably benign	Het
Ptger1	T	G	8: 84,395,974 (GRCm39)	S344A	possibly damaging	Het
Rasef	A	T	4: 73,654,004 (GRCm39)	D401E	probably null	Het
Rbm48	A	G	5: 3,634,759 (GRCm39)	C402R	probably benign	Het
Rhbdl3	G	A	11: 80,210,492 (GRCm39)	A82T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sidt2	T	A	9: 45,866,075 (GRCm39)	N44Y	probably damaging	Het
Slf2	T	A	19: 44,923,600 (GRCm39)	L138Q	possibly damaging	Het
Spag16	T	C	1: 69,935,742 (GRCm39)		probably null	Het
Sspo	C	T	6: 48,467,401 (GRCm39)	P4188S	probably damaging	Het
Synm	C	T	7: 67,384,437 (GRCm39)	S1075N	probably benign	Het
Tacc2	G	T	7: 130,331,047 (GRCm39)	D2151Y	probably damaging	Het
Tbc1d32	C	A	10: 56,027,914 (GRCm39)	L729F	probably damaging	Het
Tnfsf4	A	G	1: 161,244,584 (GRCm39)	N91S	possibly damaging	Het
Trim63	G	A	4: 134,050,444 (GRCm39)	E243K	probably benign	Het
Trim72	T	G	7: 127,603,714 (GRCm39)	L20R	probably damaging	Het
Tubb1	A	G	2: 174,299,217 (GRCm39)	M300V	probably damaging	Het
Ubfd1	C	T	7: 121,668,091 (GRCm39)	A207V	probably damaging	Het
Usp16	T	A	16: 87,267,339 (GRCm39)		probably null	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,462 (GRCm39)	I701F	possibly damaging	Het
Wdfy4	A	G	14: 32,769,232 (GRCm39)	Y2078H	probably damaging	Het
Wdr41	T	C	13: 95,153,958 (GRCm39)		probably null	Het
Zfp955b	A	G	17: 33,522,031 (GRCm39)	Y500C	probably damaging	Het

Other mutations in Rbfox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Rbfox3	APN	11	118,396,439 (GRCm39)	splice site	probably benign
IGL01622:Rbfox3	APN	11	118,396,440 (GRCm39)	splice site	probably benign
IGL01623:Rbfox3	APN	11	118,396,440 (GRCm39)	splice site	probably benign
IGL01716:Rbfox3	APN	11	118,404,115 (GRCm39)	missense	possibly damaging	0.89
IGL01772:Rbfox3	APN	11	118,387,797 (GRCm39)	missense	probably damaging	0.98
IGL03162:Rbfox3	APN	11	118,387,257 (GRCm39)	missense	probably benign	0.06
PIT4431001:Rbfox3	UTSW	11	118,386,047 (GRCm39)	missense	probably damaging	1.00
R0267:Rbfox3	UTSW	11	118,386,066 (GRCm39)	missense	probably benign	0.00
R1659:Rbfox3	UTSW	11	118,384,981 (GRCm39)	missense	probably damaging	0.99
R1681:Rbfox3	UTSW	11	118,396,495 (GRCm39)	missense	probably damaging	1.00
R1698:Rbfox3	UTSW	11	118,386,047 (GRCm39)	missense	probably damaging	1.00
R1731:Rbfox3	UTSW	11	118,387,762 (GRCm39)	critical splice donor site	probably null
R2134:Rbfox3	UTSW	11	118,387,842 (GRCm39)	missense	probably damaging	1.00
R2249:Rbfox3	UTSW	11	118,394,564 (GRCm39)	missense	probably damaging	0.99
R3051:Rbfox3	UTSW	11	118,393,714 (GRCm39)	missense	probably damaging	1.00
R3404:Rbfox3	UTSW	11	118,387,283 (GRCm39)	missense	possibly damaging	0.93
R3405:Rbfox3	UTSW	11	118,387,283 (GRCm39)	missense	possibly damaging	0.93
R3406:Rbfox3	UTSW	11	118,387,283 (GRCm39)	missense	possibly damaging	0.93
R7243:Rbfox3	UTSW	11	118,404,100 (GRCm39)	missense	probably damaging	1.00
R7797:Rbfox3	UTSW	11	118,387,310 (GRCm39)	missense	possibly damaging	0.84
X0013:Rbfox3	UTSW	11	118,387,867 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- GATGCTGTACGCTCGCTTACAG -3'
(R):5'- GCAAACGCTTGTTAAAATGCC -3'

Sequencing Primer
(F):5'- TACGCTCGCTTACAGGGCTC -3'
(R):5'- TTAAAATGCCAGTCCCGTGG -3'

Posted On

2017-11-30